FFAR2
free fatty acid receptor 2, the group of Free fatty acid receptors
Basic information
Region (hg38): 19:35443907-35451767
Previous symbols: [ "GPR43" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FFAR2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 39 | 41 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 39 | 1 | 2 |
Variants in FFAR2
This is a list of pathogenic ClinVar variants found in the FFAR2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-35449752-C-T | not specified | Uncertain significance (Jan 27, 2025) | ||
| 19-35449760-A-G | not specified | Uncertain significance (Jun 13, 2023) | ||
| 19-35449761-T-C | not specified | Uncertain significance (May 24, 2023) | ||
| 19-35449763-A-G | not specified | Uncertain significance (Sep 30, 2024) | ||
| 19-35449788-A-G | not specified | Uncertain significance (Dec 08, 2023) | ||
| 19-35449818-G-T | not specified | Uncertain significance (Jun 30, 2024) | ||
| 19-35449819-G-T | Benign (Aug 08, 2018) | |||
| 19-35449823-C-T | not specified | Uncertain significance (Dec 25, 2024) | ||
| 19-35449824-G-T | not specified | Uncertain significance (Jul 05, 2022) | ||
| 19-35449838-G-T | not specified | Uncertain significance (Nov 28, 2024) | ||
| 19-35449850-A-G | Benign (Jun 12, 2018) | |||
| 19-35449877-G-T | not specified | Uncertain significance (Dec 18, 2023) | ||
| 19-35449955-G-A | not specified | Uncertain significance (May 03, 2023) | ||
| 19-35449964-C-T | not specified | Uncertain significance (Oct 08, 2024) | ||
| 19-35450015-G-C | not specified | Uncertain significance (Jul 11, 2022) | ||
| 19-35450016-C-A | not specified | Uncertain significance (Dec 03, 2024) | ||
| 19-35450030-G-A | not specified | Uncertain significance (Nov 21, 2024) | ||
| 19-35450033-C-T | not specified | Uncertain significance (Aug 04, 2024) | ||
| 19-35450034-G-A | not specified | Uncertain significance (May 18, 2023) | ||
| 19-35450049-C-T | not specified | Uncertain significance (Jan 26, 2025) | ||
| 19-35450054-C-T | not specified | Uncertain significance (Aug 16, 2021) | ||
| 19-35450058-T-A | not specified | Uncertain significance (Jan 09, 2025) | ||
| 19-35450075-C-A | not specified | Uncertain significance (Feb 06, 2024) | ||
| 19-35450106-T-C | not specified | Uncertain significance (Aug 19, 2024) | ||
| 19-35450139-C-T | not specified | Uncertain significance (Jan 17, 2025) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FFAR2 | protein_coding | protein_coding | ENST00000599180 | 1 | 7861 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00942 | 0.827 | 125679 | 0 | 68 | 125747 | 0.000270 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.122 | 205 | 210 | 0.976 | 0.0000140 | 2105 |
| Missense in Polyphen | 75 | 83.992 | 0.89295 | 911 | ||
| Synonymous | 0.447 | 90 | 95.6 | 0.942 | 0.00000631 | 740 |
| Loss of Function | 1.11 | 4 | 7.22 | 0.554 | 3.97e-7 | 64 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00185 | 0.00185 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000881 | 0.0000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000653 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin-sensitive, G(i/o)-alpha family of G proteins but also to the Gq family (PubMed:12496283, PubMed:12711604, PubMed:23589301). Its activation results in the formation of inositol 1,4,5-trisphosphate, the mobilization of intracellular calcium, the phosphorylation of the MAPK3/ERK1 and MAPK1/ERK2 kinases and the inhibition of intracellular cAMP accumulation. May play a role in glucose homeostasis by regulating the secretion of GLP-1, in response to short-chain fatty acids accumulating in the intestine. May also regulate the production of LEP/Leptin, a hormone acting on the central nervous system to inhibit food intake. Finally, may also regulate whole-body energy homeostasis through adipogenesis regulating both differentiation and lipid storage of adipocytes. In parallel to its role in energy homeostasis, may also mediate the activation of the inflammatory and immune responses by SCFA in the intestine, regulating the rapid production of chemokines and cytokines. May also play a role in the resolution of the inflammatory response and control chemotaxis in neutrophils. In addition to SCFAs, may also be activated by the extracellular lectin FCN1 in a process leading to activation of monocytes and inducing the secretion of interleukin- 8/IL-8 in response to the presence of microbes (PubMed:21037097). Among SCFAs, the fatty acids containing less than 6 carbons, the most potent activators are probably acetate, propionate and butyrate (PubMed:12496283, PubMed:12711604). Exhibits a SCFA- independent constitutive G protein-coupled receptor activity (PubMed:23066016). {ECO:0000269|PubMed:12496283, ECO:0000269|PubMed:12684041, ECO:0000269|PubMed:12711604, ECO:0000269|PubMed:18801738, ECO:0000269|PubMed:21037097, ECO:0000269|PubMed:23066016, ECO:0000269|PubMed:23589301}.;
- Pathway
- cAMP signaling pathway - Homo sapiens (human);SCFA and skeletal muscle substrate metabolism;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Free fatty acid receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.116
Intolerance Scores
- loftool
- 0.506
- rvis_EVS
- 0.46
- rvis_percentile_EVS
- 78.59
Haploinsufficiency Scores
- pHI
- 0.131
- hipred
- N
- hipred_score
- 0.170
- ghis
- 0.462
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.262
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ffar2
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; skeleton phenotype; immune system phenotype; digestive/alimentary phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); respiratory system phenotype;
Gene ontology
- Biological process
- leukocyte chemotaxis involved in inflammatory response;mucosal immune response;regulation of acute inflammatory response;positive regulation of cytokine production involved in immune response;cell surface pattern recognition receptor signaling pathway;positive regulation of acute inflammatory response to non-antigenic stimulus;G protein-coupled receptor signaling pathway;lipid storage;positive regulation of chemokine production;glucose homeostasis;fat cell differentiation;cellular response to fatty acid;regulation of peptide hormone secretion;positive regulation of interleukin-8 secretion
- Cellular component
- plasma membrane;integral component of plasma membrane;cell projection
- Molecular function
- G protein-coupled receptor activity;protein binding;lipid binding